CDG syndrome type 1B


A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1B has a phosphomannose isomerase enzyme defect.


* Liver disease * Coagulopathy * Protein-losing enteropathy * Cyclic vomiting * Diarrhea * Hypoglycemia * Enlarged liver * Liver fibrosis


signs and symptoms of Congenital disorder of glycosylation type 1B may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Congenital disorder of glycosylation type 1B symptoms.